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A 39-year-old man presented with progressive gait disturbance and urinary incontinence. Medical history disclosed nephrolithiasis, dark urine, osteopenia and osteoarthrosis for 15 years. Examination disclosed crural spastic paraparesis with sensory level at T1 and hyperpigmentation of the sclerae (figure). Neuroimaging studies disclosed cervical spondylotic myelopathy and several discs prolapses. Homogentisic acid levels by HPLC were high in 24-hour urine.
Figure Examination and Neuroimaging in Alkaptonuria
(A) Dark urine and (B) dark sclerae (white arrow). (C) Bone densitometry disclosing osteopenia and increased density in intervertebral lumbar disks. (D-G) Sagittal spine MR imaging showing severe osteoarthropathy, disk herniation at C3-C6 levels, cervical stenosis and hyperintense spine change in T2-weighted sequence (white arrow).
Alkaptonuria or inherited ochronosis is an autosomal recessive inherited metabolic disorder involving mainly the joints, cardiovascular and genitourinary systems. Dark urine and sclerae and diffuse osteoarthropathy represent clues for clinical suspicion.1,2 Early adult-onset cervical spondylotic myelopathy represents a severe neurologic complication.1,2

Appendix Authors

References

1.
Perrone A, Impara L, Bruni A, Primicerio P, Marini M. Radiographic and MRI findings in ochronosis. Radiol Med 2005;110:349–358.
2.
Hendriksz CJ. Inborn errors of metabolism for the diagnostic radiologist. Pediatr Radiol 2009;39:211–220.

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Published In

Neurology®
Volume 96Number 13March 30, 2021
Pages: 627-628
PubMed: 33568539

Publication History

Published online: February 10, 2021
Published in print: March 30, 2021

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Wladimir Bocca Vieira de Rezende Pinto, MD, MSc
From the Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.
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Igor Braga Farias, MD
From the Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.
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Bruno de Mattos Lombardi Badia, MD
From the Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.
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José Marcos Vieira de Albuquerque Filho, MD
From the Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.
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Roberta Ismael Lacerda Machado, MD
From the Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.
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Paulo Victor Sgobbi de Souza, MD
From the Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.
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Acary Souza Bulle Oliveira, MD, PhD
From the Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.
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UNIFESP - Federal University of São Paulo (Brazil), since 1985
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Academia Brasileira de Neurologia, since 2002
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Notes

Correspondence Dr. Pinto [email protected]
Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.

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